Perinatal presentations of non‐immune hydrops fetalis due to recessive <i>PIEZO1</i> disease: A challenging fetal diagnosis-Reference-Cited by-同舟云学术

Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis

Published:2022-12-12 Issue:5 Volume:103 Page:560-565
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Ghesh Leïla¹,Désir Julie²,Haye Damien³,Le Tanno Pauline⁴,Devillard Françoise⁴,Cogné Benjamin¹,Marangoni Martina⁵,Tecco Laura⁶,Heron Delphine⁷,Le Vaillant Claudine⁸,Joubert Madeleine¹,Beneteau Claire¹

Affiliation:

1. CHU de Nantes, UF 9321 de Fœtopathologie et Génétique Nantes France

2. Service de Génétique Médicale, Hôpital Erasme ‐ Cliniques Universitaires de Bruxelles Brussels Belgium

3. Service de Génétique Médicale, Hospices Civils de Lyon Lyon France

4. Département de Génétique et Procréation Hôpital Couple‐Enfant, CHU de Grenoble Grenoble France

5. Laboratoire de Génétique Moléculaire Hôpital Erasme ‐ Cliniques Universitaires de Bruxelles Brussels Belgium

6. Service de Gynécologie‐Obstétrique Centre Hospitalier Universitaire Saint Pierre Brussels Belgium

7. Service de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles", Hôpitaux Universitaires Pitié Salpêtrière ‐ Charles Foix Paris France

8. CHU de Nantes, Service de Gynécologie‐Obstétrique, Diagnostic Anténatal Nantes France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14274

Reference15 articles.

1. Society for Maternal-Fetal Medicine (SMFM) Clinical Guideline #7: nonimmune hydrops fetalis

2. Etiology of non-immune hydrops fetalis: An update

3. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

4. Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

5. Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis

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